PDF(Pubmed)
Abstract：
Congenital cataract is the most important global cause of visual impairment in children. Autosomal dominant and autosomal recessive inheritance account for the majority of the hereditary nonsyndromic congenital cataract. The function of FYCO1 gene is to guide the transport of the microtubule-directed vesicles. Mutations in the FYCO1 gene may cause cataracts. We reported a novel nonsense mutation in FYCO1 (c.1411C > T, P. R471 ∗), which could cause nonsyndrome autosomal recessive congenital cataract. We underwent an ophthalmology examination of all participants and collected blood samples from all participants and extracted genomic DNAs. By whole exome sequencing, we found that this family carried an unreported mutation in the FYCO1 gene: c.1411C > T, P. R471 ∗. Sanger sequencing was performed to verify the mutation. We used ITASSER and PYMOL to predict and compare the structure and function of the mutated proteins. Using SIFT software and referring to the relevant guidelines of ACMG, the mutation was determined to be pathogenic. The models suggested that the nonsense mutation p.R471∗ resulted in a profound disruption of the FYCO1 protein structure. This report expands the locus information of the FYCO1 mutations.
摘要：
先天性白内障是儿童视力损害的最重要的全球性原因。常染色体显性和常染色体隐性遗传占遗传性非综合征性先天性白内障的大多数。FYCO1基因的功能是指导微管定向囊泡的转运。FYCO1基因突变可能导致白内障。我们报道了FYCO1中的一个新的无义突变(c.1411C>T，P.R471*)，这可能会导致非综合征常染色体隐性遗传性先天性白内障。我们对所有参与者进行了眼科检查，并从所有参与者收集了血液样本并提取了基因组DNA。通过整个外显子组测序，我们发现这个家族在FYCO1基因中携带了一个未报道的突变：c.1411C>T，P.R471*。进行Sanger测序以验证突变。我们使用ITASSER和PYMOL来预测和比较突变蛋白的结构和功能。使用SIFT软件并参考ACMG的相关指南，该突变被确定为致病性。模型表明，无意义突变p.R471*导致FYCO1蛋白结构的严重破坏。该报告扩展了FYCO1突变的基因座信息。
